Mutagenetix > Incidental Mutation

Incidental Mutation 'R0284:Ednrb'

24634

Institutional Source

Beutler Lab

Gene Symbol

Ednrb

Ensembl Gene

ENSMUSG00000022122

Gene Name

endothelin receptor type B

Synonyms

ETR-b, Sox10m1, ETb

MMRRC Submission

038505-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.716) question?

Stock #

R0284 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104052061-104081838 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 104057449 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 371 (G371D)

Ref Sequence

ENSEMBL: ENSMUSP00000154806 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022718] [ENSMUST00000172237] [ENSMUST00000227824]

AlphaFold

P48302

Predicted Effect

probably damaging
Transcript: ENSMUST00000022718
AA Change: G371D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022718
Gene: ENSMUSG00000022122
AA Change: G371D

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:7TM_GPCR_Srx	109	329	2.3e-6	PFAM
Pfam:7TM_GPCR_Srsx	112	401	7.3e-11	PFAM
Pfam:7tm_1	118	387	8.5e-44	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000172237
AA Change: G371D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126057
Gene: ENSMUSG00000022122
AA Change: G371D

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:7TM_GPCR_Srx	109	328	1.9e-6	PFAM
Pfam:7TM_GPCR_Srsx	112	401	7.3e-11	PFAM
Pfam:7tm_1	118	387	4.2e-40	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000227824
AA Change: G371D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.7596

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 92.4%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: This gene encodes a member of the G-protein coupled receptor family. It encodes a receptor for endothelins, peptides that are involved in vasocontriction. The encoded protein activates a phosphatidylinositol-calcium second messenger system and is required for the development of enteric neurons and melanocytes. Gene disruption causes pigmentation anomalies, deafness, and abnormal dilation of the colon due to defects of neural crest-derived cells. Mutations in this gene are found in the piebald mouse, and mouse models of Hirschsprung's disease and Waardenburg syndrome type 4. Renal collecting duct-specific gene deletion causes sodium retention and hypertension. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for null mutations have pigmentation limited to small patches on the head and rump and die from megacolon resulting from impaired neural crest migration and aganglionosis. Heterozygotes for a null allele show improved cardiac tolerance to hypoxia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh6	A	G	7: 30,013,413 (GRCm39)	T161A	probably benign	Het
Alox12e	A	G	11: 70,211,725 (GRCm39)		probably benign	Het
Ap1g2	A	G	14: 55,339,149 (GRCm39)		probably benign	Het
Arid2	A	T	15: 96,276,848 (GRCm39)		probably benign	Het
Bmp2k	A	T	5: 97,216,314 (GRCm39)	H604L	unknown	Het
Cacna1a	A	T	8: 85,338,914 (GRCm39)	M1705L	probably damaging	Het
Cacna1d	A	T	14: 29,794,062 (GRCm39)	D1526E	probably damaging	Het
Ccdc171	A	G	4: 83,467,975 (GRCm39)	R107G	possibly damaging	Het
Cklf	T	C	8: 104,988,207 (GRCm39)		probably benign	Het
Crabp1	A	G	9: 54,672,210 (GRCm39)	K9E	probably benign	Het
Cspg4	A	G	9: 56,793,423 (GRCm39)	D386G	probably damaging	Het
Cyp3a41b	G	A	5: 145,515,014 (GRCm39)		probably benign	Het
Dsg1a	T	A	18: 20,464,684 (GRCm39)	V393E	probably damaging	Het
Efcab5	T	C	11: 76,994,353 (GRCm39)		probably benign	Het
Exoc2	A	T	13: 31,061,608 (GRCm39)		probably benign	Het
Fbn2	G	A	18: 58,183,362 (GRCm39)		probably benign	Het
Foxo6	T	C	4: 120,126,199 (GRCm39)	S199G	probably benign	Het
Fpr1	T	A	17: 18,097,618 (GRCm39)	I124F	probably damaging	Het
Gk5	A	T	9: 96,063,823 (GRCm39)		probably null	Het
Gys1	A	T	7: 45,086,143 (GRCm39)		probably benign	Het
Igfbp1	T	C	11: 7,148,103 (GRCm39)	S49P	probably damaging	Het
Incenp	A	T	19: 9,871,357 (GRCm39)	S91T	unknown	Het
Itpkc	G	A	7: 26,913,968 (GRCm39)	R498*	probably null	Het
Kat6a	A	G	8: 23,429,819 (GRCm39)	T1725A	unknown	Het
Kiz	T	A	2: 146,705,730 (GRCm39)	C97S	probably benign	Het
Kri1	A	G	9: 21,187,848 (GRCm39)		probably benign	Het
Lipn	A	G	19: 34,058,106 (GRCm39)	S276G	possibly damaging	Het
Llgl1	A	G	11: 60,602,967 (GRCm39)	T881A	probably damaging	Het
Man1a2	T	C	3: 100,592,102 (GRCm39)	H26R	probably damaging	Het
Map3k5	T	A	10: 19,876,359 (GRCm39)	F173I	probably damaging	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mipol1	A	G	12: 57,503,855 (GRCm39)	Q341R	probably damaging	Het
Mllt6	G	T	11: 97,569,431 (GRCm39)	A928S	probably benign	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nipsnap3a	C	T	4: 52,997,178 (GRCm39)	T150I	probably benign	Het
Nsl1	A	G	1: 190,797,427 (GRCm39)	E97G	probably damaging	Het
Or11j4	G	A	14: 50,630,452 (GRCm39)	V80M	probably damaging	Het
Or4f54	T	C	2: 111,122,931 (GRCm39)	V106A	probably benign	Het
Or7g18	A	T	9: 18,786,848 (GRCm39)	Y72F	probably benign	Het
Or8c11	G	A	9: 38,289,880 (GRCm39)	M234I	probably benign	Het
Pakap	T	C	4: 57,855,207 (GRCm39)	F220L	probably damaging	Het
Pdcd6ip	A	G	9: 113,491,572 (GRCm39)	L552S	probably damaging	Het
Plekhf2	T	C	4: 10,990,595 (GRCm39)		probably benign	Het
Prdm1	T	C	10: 44,332,622 (GRCm39)	E96G	probably damaging	Het
Prpf40a	T	A	2: 53,040,659 (GRCm39)	E608D	probably damaging	Het
Prpf40b	A	T	15: 99,214,274 (GRCm39)		probably benign	Het
Rag2	T	C	2: 101,460,464 (GRCm39)	V258A	probably damaging	Het
S100a5	A	G	3: 90,518,881 (GRCm39)	I68V	probably benign	Het
Serpinb8	G	A	1: 107,530,648 (GRCm39)		probably null	Het
Slc24a4	T	C	12: 102,226,740 (GRCm39)	V492A	probably damaging	Het
Spag6l	T	A	16: 16,598,630 (GRCm39)	Q287L	probably damaging	Het
Spmip6	T	G	4: 41,507,538 (GRCm39)	E150A	probably damaging	Het
Synpo2	C	T	3: 122,873,383 (GRCm39)	W211*	probably null	Het
Tgtp1	A	G	11: 48,877,970 (GRCm39)	V245A	probably benign	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Trerf1	A	G	17: 47,630,471 (GRCm39)		noncoding transcript	Het
Ttn	G	C	2: 76,677,048 (GRCm39)		probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vps13d	A	T	4: 144,871,372 (GRCm39)	M1900K	probably benign	Het
Vps41	A	T	13: 19,037,610 (GRCm39)	D691V	probably damaging	Het
Zfp518b	T	C	5: 38,829,083 (GRCm39)	Y974C	probably damaging	Het
Zscan29	A	T	2: 120,997,214 (GRCm39)		probably benign	Het

Other mutations in Ednrb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00531:Ednrb	APN	14	104,057,455 (GRCm39)	missense	probably damaging	1.00
IGL01433:Ednrb	APN	14	104,080,626 (GRCm39)	missense	probably damaging	0.98
IGL01631:Ednrb	APN	14	104,080,661 (GRCm39)	missense	probably benign	0.02
IGL01696:Ednrb	APN	14	104,060,625 (GRCm39)	missense	probably benign	0.00
IGL01974:Ednrb	APN	14	104,058,254 (GRCm39)	missense	probably damaging	1.00
IGL02749:Ednrb	APN	14	104,060,495 (GRCm39)	missense	possibly damaging	0.63
IGL03277:Ednrb	APN	14	104,080,735 (GRCm39)	missense	probably benign	0.00
gus-gus	UTSW	14	104,057,449 (GRCm39)	missense	probably damaging	1.00
pongo	UTSW	14	104,060,710 (GRCm39)	splice site	probably null
sposh	UTSW	14	104,059,150 (GRCm39)	missense	probably damaging	0.97
R0591:Ednrb	UTSW	14	104,060,710 (GRCm39)	splice site	probably null
R2072:Ednrb	UTSW	14	104,054,535 (GRCm39)	missense	probably benign	0.27
R2080:Ednrb	UTSW	14	104,080,536 (GRCm39)	missense	probably damaging	1.00
R2102:Ednrb	UTSW	14	104,058,350 (GRCm39)	nonsense	probably null
R2118:Ednrb	UTSW	14	104,059,204 (GRCm39)	missense	probably benign	0.42
R2119:Ednrb	UTSW	14	104,059,204 (GRCm39)	missense	probably benign	0.42
R2124:Ednrb	UTSW	14	104,059,204 (GRCm39)	missense	probably benign	0.42
R2851:Ednrb	UTSW	14	104,059,110 (GRCm39)	missense	probably benign	0.04
R2852:Ednrb	UTSW	14	104,059,110 (GRCm39)	missense	probably benign	0.04
R3708:Ednrb	UTSW	14	104,054,516 (GRCm39)	missense	probably damaging	1.00
R4887:Ednrb	UTSW	14	104,057,447 (GRCm39)	missense	possibly damaging	0.95
R5626:Ednrb	UTSW	14	104,080,564 (GRCm39)	missense	probably damaging	0.98
R5688:Ednrb	UTSW	14	104,060,831 (GRCm39)	missense	probably damaging	1.00
R5802:Ednrb	UTSW	14	104,059,150 (GRCm39)	missense	probably damaging	0.97
R5834:Ednrb	UTSW	14	104,058,313 (GRCm39)	missense	probably damaging	1.00
R7212:Ednrb	UTSW	14	104,080,444 (GRCm39)	missense	probably damaging	0.96
R7368:Ednrb	UTSW	14	104,057,453 (GRCm39)	missense	probably benign	0.01
R7766:Ednrb	UTSW	14	104,080,725 (GRCm39)	missense	probably benign	0.12
R7866:Ednrb	UTSW	14	104,080,738 (GRCm39)	missense	probably benign
R8170:Ednrb	UTSW	14	104,060,640 (GRCm39)	missense	possibly damaging	0.92
R8220:Ednrb	UTSW	14	104,059,141 (GRCm39)	missense	probably damaging	1.00
R8299:Ednrb	UTSW	14	104,060,936 (GRCm39)	missense	probably damaging	1.00
R8375:Ednrb	UTSW	14	104,057,383 (GRCm39)	missense	probably damaging	1.00
R8431:Ednrb	UTSW	14	104,080,633 (GRCm39)	missense	probably benign	0.00
R9035:Ednrb	UTSW	14	104,080,665 (GRCm39)	missense	probably benign	0.00
R9128:Ednrb	UTSW	14	104,080,528 (GRCm39)	missense	probably damaging	1.00
R9546:Ednrb	UTSW	14	104,080,459 (GRCm39)	missense	probably benign
R9547:Ednrb	UTSW	14	104,080,459 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCCATCACATATATCGCAAGGCAGG -3'
(R):5'- CCTCCCTCGCTTCCAAATGAGAATC -3'

Posted On

2013-04-16